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Alternating Hemiplegia of Childhood (AHC) is a rare and severe disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, frequently severe developmental and psychiatric/psychological disabilities and other comorbidities, such as cardiac disturbances. Recent data indicate that AHC genotype is in relation to cardiac repolarization troubles and to cardiac arrhythmias. The primary hypothesis to explore is that there is an association between genotype and cardiac phenotype in AHC.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Alternating Hemiplegia of Childhood | Patients that meet the clinical diagnostic criteria (Aicardi et al, 1995) for typical alternating hemiplegia with or without identified mutations in ATP1A3. At least one prolonged ECG study available is required. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Recording of clinical parameters and electrocardiogram parameters | Other | Retrospective recording of demographic information (age, sex, age at diagnosis), genetic information, cardiological information, pharmacological treatments, electrocardiogram data. All above data will be deidentified. |
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of QTc interval and all relevant cardiac repolarization measurements | Outcome measure: QTc interval and cardiac repolarization measurement in milliseconds. | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with Alternating Hemiplegia of Childhood
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children, Hôpital Femme Mère Enfant, University Hospitals of Lyon (Hospices Civils de Lyon) | Bron | 69677 | France |
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| ID | Term |
|---|---|
| C536589 | Alternating hemiplegia of childhood |
| D001145 | Arrhythmias, Cardiac |
| ID | Term |
|---|---|
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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